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COL11A2 collagen type XI alpha 2 chain [ Homo sapiens (human) ]

Gene ID: 1302, updated on 28-Oct-2024

Summary

Official Symbol
COL11A2provided by HGNC
Official Full Name
collagen type XI alpha 2 chainprovided by HGNC
Primary source
HGNC:HGNC:2187
See related
Ensembl:ENSG00000204248 MIM:120290; AllianceGenome:HGNC:2187
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HKE5; PARP; STL3; FBCG2; DFNA13; DFNB53; OSMEDA; OSMEDB
Summary
This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. It is located on chromosome 6 very close to but separate from the gene for retinoid X receptor beta. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Proteolytic processing of this type XI chain produces PARP, a proline/arginine-rich protein that is an amino terminal domain. Mutations in this gene are associated with type III Stickler syndrome, otospondylomegaepiphyseal dysplasia (OSMED syndrome), Weissenbacher-Zweymuller syndrome, autosomal dominant non-syndromic sensorineural type 13 deafness (DFNA13), and autosomal recessive non-syndromic sensorineural type 53 deafness (DFNB53). Alternative splicing results in multiple transcript variants. A related pseudogene is located nearby on chromosome 6. [provided by RefSeq, Jul 2009]
Expression
Broad expression in testis (RPKM 1.9), brain (RPKM 1.8) and 20 other tissues See more
Orthologs
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Genomic context

See COL11A2 in Genome Data Viewer
Location:
6p21.32
Exon count:
72
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (33162694..33193519, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (32984047..33014927, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (33130471..33161296, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375021 Neighboring gene major histocompatibility complex, class II, DP alpha 3 (pseudogene) Neighboring gene HLA complex group 24 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:33131677-33132178 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:33165434-33165634 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:33168171-33168672 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:33168673-33169174 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:33169175-33169676 Neighboring gene retinoid X receptor beta Neighboring gene RNY4 pseudogene 10 Neighboring gene solute carrier family 39 member 7

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
A genome-wide association study in Han Chinese identifies a susceptibility locus for primary Sjögren's syndrome at 7q11.23.
EBI GWAS Catalog
Association of granulomatosis with polyangiitis (Wegener's) with HLA-DPB1*04 and SEMA6A gene variants: evidence from genome-wide analysis.
EBI GWAS Catalog
Genetically distinct subsets within ANCA-associated vasculitis.
EBI GWAS Catalog
Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in cartilage development IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in cartilage development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in collagen fibril organization IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in collagen fibril organization IDA
Inferred from Direct Assay
more info
PubMed 
involved_in roof of mouth development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in sensory perception of sound IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within sensory perception of sound IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in sensory perception of sound IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in skeletal system development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in skeletal system development NAS
Non-traceable Author Statement
more info
PubMed 
involved_in soft palate development IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
part_of collagen trimer IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of collagen type XI trimer NAS
Non-traceable Author Statement
more info
PubMed 
located_in collagen-containing extracellular matrix HDA PubMed 
is_active_in collagen-containing extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in collagen-containing extracellular matrix NAS
Non-traceable Author Statement
more info
PubMed 
located_in endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
located_in extracellular region TAS
Traceable Author Statement
more info
 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
 

General protein information

Preferred Names
collagen alpha-2(XI) chain
Names
collagen, type XI, alpha 2
pro-a2 chain of collagen type XI

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011589.1 RefSeqGene

    Range
    5002..34775
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001163771.2NP_001157243.1  collagen alpha-2(XI) chain isoform 4 precursor

    See identical proteins and their annotated locations for NP_001157243.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks several exons at the 3' end and has a distinct 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (4) has a distinct C-terminus and is considerably shorter than isoform 1.
    Source sequence(s)
    AL645940, BC053886
    Consensus CDS
    CCDS54992.1
    UniProtKB/TrEMBL
    A0A140T9A1
    Related
    ENSP00000378620.1, ENST00000395194.1
    Conserved Domains (1) summary
    smart00210
    Location:31213
    TSPN; Thrombospondin N-terminal -like domains
  2. NM_001424108.1NP_001411037.1  collagen alpha-2(XI) chain isoform 5 preproprotein

    Status: REVIEWED

    Source sequence(s)
    AL645940
  3. NM_001424109.1NP_001411038.1  collagen alpha-2(XI) chain isoform 6

    Status: REVIEWED

    Source sequence(s)
    AL645940
  4. NM_001424110.1NP_001411039.1  collagen alpha-2(XI) chain isoform 7

    Status: REVIEWED

    Source sequence(s)
    AL645940
  5. NM_001424111.1NP_001411040.1  collagen alpha-2(XI) chain isoform 7

    Status: REVIEWED

    Source sequence(s)
    AL645940
  6. NM_001424112.1NP_001411041.1  collagen alpha-2(XI) chain isoform 8

    Status: REVIEWED

    Source sequence(s)
    AL645940
  7. NM_080679.3NP_542410.2  collagen alpha-2(XI) chain isoform 3 preproprotein

    See identical proteins and their annotated locations for NP_542410.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks three alternate in-frame exons, compared to variant 1, resulting in a shorter protein (isoform 3), compared to isoform 1. There are no publicly available human transcripts representing the full-length exon combination of this variant, but the region of variation is supported by experimental data in PMIDs 8663204 and 8838804, by homology data in mouse, and the full-length sequence is represented in accession U32169.1:AAC50215.1.
    Source sequence(s)
    AL645940
    UniProtKB/TrEMBL
    A0A0G2JL78, A0A140TA54
    Conserved Domains (3) summary
    pfam01391
    Location:547603
    Collagen; Collagen triple helix repeat (20 copies)
    smart00038
    Location:14331628
    COLFI; Fibrillar collagens C-terminal domain
    smart00210
    Location:31213
    TSPN; Thrombospondin N-terminal -like domains
  8. NM_080680.3NP_542411.2  collagen alpha-2(XI) chain isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_542411.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). There are no publicly available human transcripts representing the full-length exon combination of this variant, but the region of variation is supported by experimental data in PMIDs 8663204 and 8838804, by homology data in mouse, and the full-length sequence is represented in accession U32169.1:AAC50214.1.
    Source sequence(s)
    AL645940
    UniProtKB/TrEMBL
    A0A0C4DFS1, A0A1U9X7J8
    Related
    ENSP00000339915.2, ENST00000341947.7
    Conserved Domains (5) summary
    pfam01391
    Location:654710
    Collagen; Collagen triple helix repeat (20 copies)
    smart00038
    Location:15401735
    COLFI; Fibrillar collagens C-terminal domain
    smart00210
    Location:31213
    TSPN; Thrombospondin N-terminal -like domains
    cl26386
    Location:12641437
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
    cl28033
    Location:361703
    Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region
  9. NM_080681.3NP_542412.2  collagen alpha-2(XI) chain isoform 2 preproprotein

    See identical proteins and their annotated locations for NP_542412.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks two alternate in-frame exons, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1. There are no publicly available human transcripts representing the full-length exon combination of this variant, but the region of variation is supported by experimental data in PMIDs 8663204 and 8838804, by homology data in mouse, and the full-length sequence is represented in accession U32169.1:AAC50213.1.
    Source sequence(s)
    AL645940
    Consensus CDS
    CCDS43452.1
    UniProtKB/TrEMBL
    A0A140T9N1, Q4VXY6
    Related
    ENSP00000363840.4, ENST00000374708.8
    Conserved Domains (3) summary
    pfam01391
    Location:568624
    Collagen; Collagen triple helix repeat (20 copies)
    smart00038
    Location:14541649
    COLFI; Fibrillar collagens C-terminal domain
    smart00210
    Location:31213
    TSPN; Thrombospondin N-terminal -like domains

RNA

  1. NR_187605.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL645940

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    33162694..33193519 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047418183.1XP_047274139.1  collagen alpha-2(XI) chain isoform X7

  2. XM_017010250.2XP_016865739.1  collagen alpha-2(XI) chain isoform X1

    UniProtKB/TrEMBL
    A0A0C4DFS1, A0A1U9X7J8
    Conserved Domains (5) summary
    pfam01391
    Location:654710
    Collagen; Collagen triple helix repeat (20 copies)
    smart00038
    Location:15401735
    COLFI; Fibrillar collagens C-terminal domain
    smart00210
    Location:31213
    TSPN; Thrombospondin N-terminal -like domains
    cl26386
    Location:12641437
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
    cl28033
    Location:361703
    Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region
  3. XM_011514300.3XP_011512602.1  collagen alpha-2(XI) chain isoform X4

    See identical proteins and their annotated locations for XP_011512602.1

    Conserved Domains (2) summary
    pfam01391
    Location:356412
    Collagen; Collagen triple helix repeat (20 copies)
    smart00038
    Location:12421437
    COLFI; Fibrillar collagens C-terminal domain
  4. XM_011514299.3XP_011512601.1  collagen alpha-2(XI) chain isoform X3

    See identical proteins and their annotated locations for XP_011512601.1

    UniProtKB/TrEMBL
    A0A1U9X7J8
    Conserved Domains (2) summary
    pfam01391
    Location:416472
    Collagen; Collagen triple helix repeat (20 copies)
    smart00038
    Location:13021497
    COLFI; Fibrillar collagens C-terminal domain
  5. XM_017010251.3XP_016865740.1  collagen alpha-2(XI) chain isoform X6

  6. XM_011514302.3XP_011512604.1  collagen alpha-2(XI) chain isoform X5

    See identical proteins and their annotated locations for XP_011512604.1

    Conserved Domains (2) summary
    pfam01391
    Location:283339
    Collagen; Collagen triple helix repeat (20 copies)
    smart00038
    Location:11691364
    COLFI; Fibrillar collagens C-terminal domain

Reference GRCh38.p14 ALT_REF_LOCI_2

Genomic

  1. NT_113891.3 Reference GRCh38.p14 ALT_REF_LOCI_2

    Range
    4574202..4605026 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054329736.1XP_054185711.1  collagen alpha-2(XI) chain isoform X8

Reference GRCh38.p14 ALT_REF_LOCI_3

Genomic

  1. NT_167245.2 Reference GRCh38.p14 ALT_REF_LOCI_3

    Range
    4406193..4437018 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054330229.1XP_054186204.1  collagen alpha-2(XI) chain isoform X1

    UniProtKB/TrEMBL
    A0A0C4DFS1
  2. XM_054330232.1XP_054186207.1  collagen alpha-2(XI) chain isoform X4

  3. XM_054330231.1XP_054186206.1  collagen alpha-2(XI) chain isoform X3

  4. XM_054330234.1XP_054186209.1  collagen alpha-2(XI) chain isoform X6

  5. XM_054330233.1XP_054186208.1  collagen alpha-2(XI) chain isoform X5

Reference GRCh38.p14 ALT_REF_LOCI_4

Genomic

  1. NT_167246.2 Reference GRCh38.p14 ALT_REF_LOCI_4

    Range
    4582167..4613046 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054330520.1XP_054186495.1  collagen alpha-2(XI) chain isoform X11

  2. XM_054330519.1XP_054186494.1  collagen alpha-2(XI) chain isoform X10

  3. XM_054330517.1XP_054186492.1  collagen alpha-2(XI) chain isoform X1

    UniProtKB/TrEMBL
    A0A140TA43
  4. XM_054330518.1XP_054186493.1  collagen alpha-2(XI) chain isoform X9

  5. XM_054330522.1XP_054186497.1  collagen alpha-2(XI) chain isoform X4

  6. XM_054330521.1XP_054186496.1  collagen alpha-2(XI) chain isoform X3

  7. XM_054330524.1XP_054186499.1  collagen alpha-2(XI) chain isoform X6

  8. XM_054330523.1XP_054186498.1  collagen alpha-2(XI) chain isoform X5

Reference GRCh38.p14 ALT_REF_LOCI_5

Genomic

  1. NT_167247.2 Reference GRCh38.p14 ALT_REF_LOCI_5

    Range
    4598652..4629530 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054330768.1XP_054186743.1  collagen alpha-2(XI) chain isoform X14

  2. XM_054330766.1XP_054186741.1  collagen alpha-2(XI) chain isoform X13

  3. XM_054330764.1XP_054186739.1  collagen alpha-2(XI) chain isoform X1

    UniProtKB/TrEMBL
    A0A0G2JL35
  4. XM_054330765.1XP_054186740.1  collagen alpha-2(XI) chain isoform X12

  5. XM_054330770.1XP_054186745.1  collagen alpha-2(XI) chain isoform X4

  6. XM_054330769.1XP_054186744.1  collagen alpha-2(XI) chain isoform X3

  7. XM_054330772.1XP_054186747.1  collagen alpha-2(XI) chain isoform X6

  8. XM_054330771.1XP_054186746.1  collagen alpha-2(XI) chain isoform X5

Reference GRCh38.p14 ALT_REF_LOCI_6

Genomic

  1. NT_167248.2 Reference GRCh38.p14 ALT_REF_LOCI_6

    Range
    4357098..4387977 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054331004.1XP_054186979.1  collagen alpha-2(XI) chain isoform X17

  2. XM_054331003.1XP_054186978.1  collagen alpha-2(XI) chain isoform X16

  3. XM_054331001.1XP_054186976.1  collagen alpha-2(XI) chain isoform X1

    UniProtKB/TrEMBL
    A0A0G2JL35
  4. XM_054331002.1XP_054186977.1  collagen alpha-2(XI) chain isoform X15

  5. XM_054331006.1XP_054186981.1  collagen alpha-2(XI) chain isoform X4

  6. XM_054331005.1XP_054186980.1  collagen alpha-2(XI) chain isoform X3

  7. XM_054331008.1XP_054186983.1  collagen alpha-2(XI) chain isoform X6

  8. XM_054331007.1XP_054186982.1  collagen alpha-2(XI) chain isoform X5

Reference GRCh38.p14 ALT_REF_LOCI_7

Genomic

  1. NT_167249.2 Reference GRCh38.p14 ALT_REF_LOCI_7

    Range
    4611340..4639206 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    32984047..33014927 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054354226.1XP_054210201.1  collagen alpha-2(XI) chain isoform X20

  2. XM_054354224.1XP_054210199.1  collagen alpha-2(XI) chain isoform X19

  3. XM_054354222.1XP_054210197.1  collagen alpha-2(XI) chain isoform X1

    UniProtKB/TrEMBL
    A0A0C4DFS1
  4. XM_054354223.1XP_054210198.1  collagen alpha-2(XI) chain isoform X18

  5. XM_054354228.1XP_054210203.1  collagen alpha-2(XI) chain isoform X4

  6. XM_054354227.1XP_054210202.1  collagen alpha-2(XI) chain isoform X3

  7. XM_054354230.1XP_054210205.1  collagen alpha-2(XI) chain isoform X6

  8. XM_054354229.1XP_054210204.1  collagen alpha-2(XI) chain isoform X5